Linked Data
ClinVar Variation Id:
21377
ClinVar RCV Id:
RCV000020550
dbSNP Id:
rs80338876
ExAC:
7:100238821 C / T
gnomAD v2:
7-100238821-C-T
gnomAD v3:
7-100641198-C-T
gnomAD v4:
7-100641198-C-T
COSMIC:
COSM3080601
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100641198C>T , CM000669.2:g.100641198C>T | GRCh38 |
| NC_000007.13:g.100238821C>T , CM000669.1:g.100238821C>T | GRCh37 |
| NC_000007.12:g.100076757C>T | NCBI36 |
| NG_007989.1:g.5353G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223051.8:c.64G>A MANE Select | ENSP00000223051.3:p.Val22Ile | |
| ENST00000223051.7:c.64G>A | ENSP00000223051.3:p.Val22Ile | |
| ENST00000431692.5:c.64G>A | ENSP00000413905.1:p.Val22Ile | |
| ENST00000462107.1:c.64G>A | ENSP00000420525.1:p.Val22Ile | |
| ENST00000465294.5:n.69G>A | ||
| ENST00000474947.1:n.222G>A | ||
| NM_003227.3:c.64G>A | NP_003218.2:p.Val22Ile | |
| XM_005250553.3:c.64G>A | XP_005250610.1:p.Val22Ile | |
| XM_005250554.3:c.64G>A | XP_005250611.1:p.Val22Ile | |
| XM_005250553.4:c.64G>A | XP_005250610.1:p.Val22Ile | |
| XM_017012573.1:c.64G>A | XP_016868062.1:p.Val22Ile | |
| NM_003227.4:c.64G>A MANE Select | NP_003218.2:p.Val22Ile |